Search Results - "next generation sequencing"

The Genetic Facets of Dravet Syndrome: Recent Insights by Hinde El Mouhi, Meriame Abbassi, Meryem Jalte, Abdelhafid Natiq, Laila Bouguenouch, Sana Chaouki

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Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report by Anna Keravnou, Evy Bashiardes, Kyriaki Michailidou, Marinos Soteriou, Areti Moushi, Marios Cariolou

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Analysis of Antimicrobial Resistance Genes (ARGs) in Enterobacterales and <i>A. baumannii</i> Clinical Strains Colonizing a Single Italian Patient by Alessandra Piccirilli, Elisa Meroni, Carola Mauri, Mariagrazia Perilli, Sabrina Cherubini, Arianna Pompilio, Francesco Luzzaro, Luigi Principe

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Stevens-Johnson syndrome induced by toripalimab in a previously EGFR-TKI-treated advanced lung adenocarcinoma patient harboring EGFR mutations 19 del/T790M/C797S in trans and cis:... by Yang Chen, Hanhan Hong, Shujun Bao, Hao Tang

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Genetic polymorphisms linked to extreme postorthodontic external apical root resorption in Koreans by Jing Liu, Kwanwoo Park, Yoon Jeong Choi, Ji Hyun Lee, Jung-Yul Cha

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Nephrolithiasis Associated with Nephrocalcinosis Is Primarily Composed of Carbonate Apatite by Teresa Antonia Kiener, Elena Moré, Michael Franzen, Janne Cadamuro, Christoph Schwarz, Carsten Bergmann, Hermann Salmhofer

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RNA-seq validation of microRNA expression signatures for precision melanoma diagnosis and prognostic stratification by Christopher G. Love, Lauren Coombs, Ryan Van Laar

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Advances in estimating plasma cells in bone marrow: A comprehensive method review by Ethan J. Gantana, Ernest Musekwa, Zivanai C. Chapanduka

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Comparison and combination of mutation and methylation-based urine tests for bladder cancer detection by Naheema S. Gordon, Elspeth K. McGuigan, Michaela Ondasova, Jennifer Knight, Laura A. Baxter, Sascha Ott, Robert K. Hastings, Maurice P. Zeegers, Nicholas D. James, K. K. Cheng, Anshita Goel, Minghao Yu, Roland Arnold, Richard T. Bryan, Douglas G. Ward

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Computer-aided laser dissection: A microdissection workflow leveraging image analysis tools by Jason D Hipp, Donald J Johann, Yun Chen, Anant Madabhushi, James Monaco, Jerome Cheng, Jaime Rodriguez-Canales, Martin C Stumpe, Greg Riedlinger, Avi Z Rosenberg, Jeffrey C Hanson, Lakshmi P Kunju, Michael R Emmert-Buck, Ulysses J Balis, Michael A Tangrea

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Prenatal phenotype features and genetic etiology of the Williams-Beuren syndrome and literature review by Yunan Wang, Yunan Wang, Chang Liu, Chang Liu, Rong Hu, Rong Hu, Juan Geng, Jian Lu, Jian Lu, Xianzhe Zhao, Ying Xiong, Ying Xiong, Jing Wu, Jing Wu, Aihua Yin, Aihua Yin

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Congenital Disorder of Glycosylation: Clinical and Molecular Characteristics of 9 Patients from Turkey by Melis Kose, Engin Kose, Mehtap Kagnici, Hande Gazeteci Tekin, Burçin Ozen, Taha Reşid Ozdemir, Özgür Kirbiyik, Huseyin Onay, Ünsal Yilmaz, Aycan Unalp

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Genetically determined vitamin D reception in metabolically unhealthy obesity in children by A. Abaturov, A. Nikulina

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SARS-CoV-2 variants in severely symptomatic and deceased persons who had been vaccinated against COVID-19 in São Paulo, Brazil by Karoline Rodrigues Campos, Cláudio Tavares Sacchi, Adriano Abbud, Adele Caterino-

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Unveil the transcriptional landscape at the Cryptococcus-host axis in mice and nonhuman primates. by Hailong Li, Yanjian Li, Tianshu Sun, Wei Du, Chao Li, Chenhao Suo, Yang Meng, Qiaojing Liang, Tian Lan, Manli Zhong, Sheng Yang, Cheng Niu, Dancheng Li, Chen Ding

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ProGeo-neo: a customized proteogenomic workflow for neoantigen prediction and selection by Yuyu Li, Guangzhi Wang, Xiaoxiu Tan, Jian Ouyang, Menghuan Zhang, Xiaofeng Song, Qi Liu, Qibin Leng, Lanming Chen, Lu Xie

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Association of disease severity and genetic variation during primary Respiratory Syncytial Virus infections by William Bender, Yun Zhang, Anthony Corbett, Chinyi Chu, Alexander Grier, Lu Wang, Xing Qiu, Matthew N. McCall, David J. Topham, Edward E. Walsh, Thomas J. Mariani, Richard Scheuermann, Mary T. Caserta, Christopher S. Anderson

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Association between human leukocyte antigen alleles and COVID-19 disease severity by Ali Hajeer, Dunia Jawdat, Salam Massadeh, Nora Aljawini, Malak S. Abedalthagafi, Yaseen M. Arabi, Manal Alaamery

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Unraveling Gene Fusions for Drug Repositioning in High-Risk Neuroblastoma by Zhichao Liu, Xi Chen, Ruth Roberts, Ruth Roberts, Ruili Huang, Mike Mikailov, Weida Tong

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Detection of de novo genetic variants in Mayer-Rokitansky-Küster-Hauser syndrome by whole genome sequencing by Hong-xin Pan, Guang-nan Luo, Sheng-qing Wan, Cheng-lu Qin, Jie Tang, Meng Zhang, Min Du, Ke-ke Xu, Jin-qiu Shi

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